By Professor Tony Roscioli

Conference Abstracts

Sundercombe S; Walsh R; Hanna B; Elserafy N; Kirk E; Zhang F; Zhu Y; Buckley M; Aklilu E; Roscioli T, 2022, 'PIGV P.L472p mutation identified by exome sequencing in a neonate with a glycosylation disorder confirmed by flow cytometry', in Pathology, Elsevier BV, Vol. 54, pp. S72 - S73, http://dx.doi.org/10.1016/j.pathol.2021.12.239

Palmer EE; Sachdev R; Macintosh R; Kandula T; Minoche A; Puttick C; Gayevskiy V; Roscioli T; Dinger M; Hesson L; Shoubridge C; Drew A; Davis R; Kummerfeld S; Cowley M; Bye A; Kirk E, 2019, 'How far can we go? Whole genome sequencing, periodic reanalysis and international collaborations expands our understanding of the causes of developmental and epileptic encephalopathy', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, SWEDEN, Gothenburg, Vol. 27, pp. 1431 - 1432, presented at 52nd Conference of the European-Society-of-Human-Genetics (ESHG), SWEDEN, Gothenburg, 15 June 2019 - 18 June 2019, http://dx.doi.org/10.26190/unsworks/27545

Barlow-Stewart KK; Josephi-Taylor S; Selvanathan A; Roscioli T; Bittles A; Meiser B; Worgan L; Rajagopalan S; Colley A; Kirk E, 2018, 'User acceptability of whole exome pre-conception carrier testing for consanguineous couples in Australia', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 724 - 725, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313105212&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Goodnow C; Reed J; Burnett D; Brink R; Christ D; Schofield P; Perotti S; Enders A; Ziegler J; Wainstein B; Roscioli T; Gray P, 2016, 'Redemption or Revolt of Forbidden Clones: Mutations, Autoantibodies and CTLA4-Ig Therapy', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, AUSTRALIA, Melbourne, Vol. 46, pp. 3 - 3, presented at International Congress of Immunology (ICI), AUSTRALIA, Melbourne, 21 August 2016 - 26 August 2016, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610400007&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Gray P; Walsh C; Zhu Y; Elakis G; Mullan G; Lo W; Lee E; Cowley M; Dinger M; Buckley M; Ziegler J; Tangye S; Roscioli T, 2014, 'Extrapulmonary Non-Tuberculous Mycobacterial Infection in a Child with Autosomal Dominant Hyper IgE Syndrome', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, Vol. 34, pp. S499 - S500, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, CZECH REPUBLIC, Prague, 29 October 2014 - 01 November 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100775&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Gray PE; Walsh C; Zhu Y; Elakis G; Mullan G; Lo W; Lee E; Kashef S; Cowley M; Dinger M; Buckley MF; Ziegler JB; Roscioli T, 2014, 'A SUCCESSFUL APPLICATION OF NEXT GENERATION SEQUENCING TO THE DIAGNOSIS OF ADAPTIVE PRIMARY IMMUNODEFICIENCY', in INTERNAL MEDICINE JOURNAL, WILEY-BLACKWELL, Vol. 44, pp. 10 - 10, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000342722800033&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

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